Canonical Allele Identifier: CA1682817996
Gene: MAD1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1872586A>C , CM000669.2:g.1872586A>C GRCh38
NC_000007.13:g.1912222A>C , CM000669.1:g.1912222A>C GRCh37
NC_000007.12:g.1878748A>C NCBI36
NG_011518.1:g.365362T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265854.12:c.1998+25614T>G MANE Select ENSP00000265854.7:n.1998+25614T>G
ENST00000651235.1:c.*4758+25614T>G ENSP00000498895.1:n.*4758+25614T>G
ENST00000265854.11:c.1998+25614T>G ENSP00000265854.7:n.1998+25614T>G
ENST00000399654.6:c.1998+25614T>G ENSP00000382562.2:n.1998+25614T>G
ENST00000402746.5:c.1722+25614T>G ENSP00000384155.1:n.1722+25614T>G
ENST00000406869.5:c.1998+25614T>G ENSP00000385334.1:n.1998+25614T>G
ENST00000450235.5:c.651+25614T>G ENSP00000394886.1:n.651+25614T>G
ENST00000481633.1:n.112+59T>G
NM_001013836.1:c.1998+25614T>G NP_001013858.1:n.1998+25614T>G
NM_001013837.1:c.1998+25614T>G NP_001013859.1:n.1998+25614T>G
NM_001304523.1:c.1998+25614T>G NP_001291452.1:n.1998+25614T>G
NM_001304524.1:c.1722+25614T>G NP_001291453.1:n.1722+25614T>G
NM_001304525.1:c.366+25614T>G NP_001291454.1:n.366+25614T>G
NM_003550.2:c.1998+25614T>G NP_003541.2:n.1998+25614T>G
XM_005249877.1:c.1857+25614T>G XP_005249934.1:n.1857+25614T>G
XM_011515567.1:c.1941+25614T>G XP_011513869.1:n.1941+25614T>G
XM_011515569.1:c.768+25614T>G XP_011513871.1:n.768+25614T>G
XM_011515571.1:c.768+25614T>G XP_011513873.1:n.768+25614T>G
XM_011515569.3:c.1032+25614T>G XP_011513871.2:n.1032+25614T>G
XM_017012690.1:c.2190+25614T>G XP_016868179.1:n.2190+25614T>G
XM_017012691.2:c.768+25614T>G XP_016868180.1:n.768+25614T>G
XM_024446951.1:c.1941+25614T>G XP_024302719.1:n.1941+25614T>G
XM_024446952.1:c.1941+25614T>G XP_024302720.1:n.1941+25614T>G
NM_001013836.2:c.1998+25614T>G MANE Select NP_001013858.1:n.1998+25614T>G
NM_001013837.2:c.1998+25614T>G NP_001013859.1:n.1998+25614T>G
NM_001304523.2:c.1998+25614T>G NP_001291452.1:n.1998+25614T>G
NM_001304524.2:c.1722+25614T>G NP_001291453.1:n.1722+25614T>G
NM_001304525.2:c.366+25614T>G NP_001291454.1:n.366+25614T>G
NM_003550.3:c.1998+25614T>G NP_003541.2:n.1998+25614T>G